Article
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study.
Genetic testing - 1 Jan 2005
Sposìto R, Pasquali L, Galluzzi F, Rocchi A, Solìto B, Soragna D, Tupler R, Siciliano G
Abstract excerpt
Facioscapulohumeral muscular dystrophy type 1A (FSHD1A) is an autosomal dominant inherited disorder characterized by early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles. A high degree of clinical variability with respect to age at onset, severity, and pattern of muscle involvement, both between and within families, is present. For this reason, diagnosis of...
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