Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations

Distribució i estat de conservació de Myriostoma coliforme (Geastraceae, Basidiomycota) a Catalunya (NE península Ibèrica)

S'aporten dades sobre noves poblacions de Myriostoma coliforme (Dicks.) Corda a Catalunya descobertes els últims anys, que amplien notablement l'àrea de distribució coneguda fins ara d'aquest fong, protegit a Catalunya i inclòs a la majoria de llistes vermelles dels països europeus on és present. Es revisa la distribució i els requeriments ecològics d'aquest tàxon a Catalunya, i se n'avalua l'estatus d'amenaça.We report data of new populations of Myriostoma coliforme in Catalonia discovered during the last years and expand the knowledge of the area of occupancy of this fungus protected in Catalonia and included in several red lists of European countries. We review the distribution and ecological requirements of this species and evaluate its threat category in Catalonia according to IUCN criteri

Distinct muscle imaging patterns in myofibrillar myopathies

Objective: To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders. Methods: Muscle imaging and clinical findings of 46 patients with MFM were evaluated (19 desminopathy, 12 myotilinopathy, 11 filaminopathy, 1 alpha B-crystallinopathy, and 3 ZASPopathy). The data were collected retrospectively in 43 patients and prospectively in 3 patients. Results: In patients with desminopathy, the semitendinosus was at least equally affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior (sensitivity of these imaging criteria to detect desminopathy in our cohort 100%, specificity 95%). In most of the patients with myotilinopathy, the adductor magnus showed more alterations than the gracilis muscle, and the sartorius was at least equally affected as the semitendinosus (sensitivity 90%, specificity 93%). In filaminopathy, the biceps femoris and semitendinosus were at least equally affected as the sartorius muscle, and the medial gastrocnemius was more affected than the lateral gastrocnemius. The semimembranosus mostly showed more alterations than the adductor magnus (sensitivity 88%, specificity 96%). Early adult onset and cardiac involvement was most often associated with desminopathy. In patients with filaminopathy, muscle weakness typically beginning in the 5th decade of life was mostly pronounced proximally, while late adult onset (> 50 years) with distal weakness was more often present in myotilinopathy. Conclusions: Muscle imaging in combination with clinical data may be helpful for separation of distinct myofibrillar myopathy subtypes and in scheduling of genetic analysis

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRY A B, M YOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 M FM patients from 35 Spanish families. Studies included neurologic exam, muscle imaging, light and electron microscopic analysis of muscle biopsy, respiratory function testing and cardiologic work-up. Search for pathogenic mutations was accomplished by sequencing of coding regions of the six genes known to cause MFM. Mutations in M YOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed by DES in 11 and ZASP in 3; in 3 families the cause of MFM remains undetermined. Comparative analysis of DES, MYOT and ZASP associated phenotypes demonstrates substantial phenotypic distinctions that should be considered in studies of disease pathogenesis, for optimization of subtype-specific treatments and management, and directing molecular analysis. (C) 2011 Elsevier B.V. All rights reserved

Distribució i estat de conservació de Myriostoma coliforme (Geastraceae, Basidiomycota) a Catalunya (NE península Ibèrica)

S'aporten dades sobre noves poblacions de Myriostoma coliforme (Dicks.) Corda a Catalunya descobertes els últims anys, que amplien notablement l'àrea de distribució coneguda fins ara d'aquest fong, protegit a Catalunya i inclòs a la majoria de llistes vermelles dels països europeus on és present. Es revisa la distribució i els requeriments ecològics d'aquest tàxon a Catalunya, i se n'avalua l'estatus d'amenaça.We report data of new populations of Myriostoma coliforme in Catalonia discovered during the last years and expand the knowledge of the area of occupancy of this fungus protected in Catalonia and included in several red lists of European countries. We review the distribution and ecological requirements of this species and evaluate its threat category in Catalonia according to IUCN criteri

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations

Distribució i estat de conservació de Myriostoma coliforme (Geastraceae, Basidiomycota) a Catalunya (NE península Ibèrica)

S'aporten dades sobre noves poblacions de Myriostoma coliforme (Dicks.) Corda a Catalunya descobertes els últims anys, que amplien notablement l'àrea de distribució coneguda fins ara d'aquest fong, protegit a Catalunya i inclòs a la majoria de llistes vermelles dels països europeus on és present. Es revisa la distribució i els requeriments ecològics d'aquest tàxon a Catalunya, i se n'avalua l'estatus d'amenaça.We report data of new populations of Myriostoma coliforme in Catalonia discovered during the last years and expand the knowledge of the area of occupancy of this fungus protected in Catalonia and included in several red lists of European countries. We review the distribution and ecological requirements of this species and evaluate its threat category in Catalonia according to IUCN criteria

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations