Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

Background: Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy. Methods: To better characterize the phenotypic spectrum of CACNA1S myopathy, we conducted a systematic review of cases in the literature through three electronic databases following the PRISMA guidelines. We selected nine articles describing 23 patients with heterozygous, homozygous, or compound heterozygous mutations in CACNA1S and we added one patient with a compound heterozygous mutation in CACNA1S (c.1394-2A>G; c.1724T>C, p.L575P) followed at our Institute. We collected clinical and genetic data, muscle biopsies, and muscle MRIs when available. Results: The phenotype of this myopathy is heterogeneous, ranging from more severe forms with a lethal early onset and mild-moderate forms with a better clinical course. Conclusions: Our patient presented a phenotype compatible with the mild-moderate form, although she presented peculiar features such as a short stature, myopia, mild sensorineural hearing loss, psychiatric symptoms, and posterior-anterior impairment gradient on thigh muscle MRI

Carta rappresentante la penisola della Florida

https://digitalcommons.usf.edu/fl_maps_collection/1058/thumbnail.jp

Carta rappresentante la penisola della Florida

https://digitalcommons.usf.edu/fl_maps_collection/1058/thumbnail.jp

Gulf of Saint Lawrence, Nova Scotia & Newfoundland 1775

Relief shown pictorially.; In: Il gazzettiere americano ... l763, v. 3, opp. p. 9.;Grayscale;Scale approximately 1:3,900,000.

Parte del Golfo del Messico

https://digitalcommons.unf.edu/campus_art/1636/thumbnail.jp

Carta rappresentante il golfo del fiume S. Lorenzo / Andrea Scacciati sc. ; Giu. Pazzi scrisse

1 Mapa. Dins (?): Il Gazzetiere americano, Livorno 1763. Datat al 1778 aproximadament.34 x 23 c

Carta rappresentante il golfo del fiume S. Lorenzo / Andrea Scacciati sc. ; Giu. Pazzi scrisse

1 Mapa. Dins (?): Il Gazzetiere americano, Livorno 1763. Datat al 1778 aproximadament.34 x 23 c

Carta rappresentante la penisola della Florida.

Scale ca. 1:6,000,000.Relief shown pictorially.Shows southeastern United States, west to Pearl River, Louisiana and Mississippi, and north to latitude 34 degrees.LC Maps of North America, 1750-1789, 161

BMC 76--Carta Rappresentante i Cinque Laghi del Canada, 1763

This map was engraved by Andrea Scacciati and Giuseppe Pazzi for Il Gazzettiere Americano, published in Livorno in 1763. The map depicts all five of the Great Lakes although Lake Superior is only partially represented. It extends north and south beyond Lake Superior and Fort Duquesne, west to Green Bay, and east to include parts of New Jersey. The map identifies geographical features, various rivers, trading post, and fortifications. American Indian tribes are identified with Italianized names such as the “Irocchesi” and “Algonquini.” Niagara Falls is identified.https://digitalmaine.com/arc_baxter/1026/thumbnail.jp

BMC 75--Nuova ed esatta Carta Della America Ricavata dale Mappe, e carte piu approvate, 1763

Map of North and South America engraved by Andrea Scacciati and published in Il Gazzettiere Americano by Marco Coltellini, Livorno, 1763. The atlas is the first Italian translation of The American Gazetteer published in 1762. The maps accompanying the atlas are derived from the French cartographer Jacques Nicolas Bellin. The works bear the signatures of Veremondo Rossi, Andrea Scacciati, Giuseppe Maria Terreni and also Violante Vanni, a rare case of Italian women\u27s engagement in the cartographic field.https://digitalmaine.com/arc_baxter/1025/thumbnail.jp