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Article

Mutation spectrum and phenotypic manifestation in FSHD Greek patients.

Neuromuscular disorders : NMD - 1 Apr 2012

Sakellariou P, Kekou K, Fryssira H, Sofocleous C, Manta P, Panousopoulou A, Gounaris K, Kanavakis E

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic myopathy with a remarkable intra- and inter-familial clinical heterogeneity. This study reports the clinical and genetic analysis of 133 individuals from 71 unrelated Greek families based on a revised clinical severity score (rCSS) index which was developed for clinical assessment regarding the disease progression. A high ratio (31/62, 50%) of probands'...

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Source

Identifiers

PMID: 22357364
DOI: 10.1016/j.nmd.2011.11.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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