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Article

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.

Neurology - 21 Apr 2009

Fanin M, Nascimbeni A C, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C

Abstract excerpt

BACKGROUND: The frequency of various limb-girdle muscular dystrophy (LGMD) molecular diagnoses has previously been investigated only in cohorts of patients presenting LGMD phenotype. METHODS: A total of 550 muscle biopsies underwent multiple protein screening (including calpain-3 functional assay) and extensive gene mutation analysis to examine the frequency of LGMD subtypes in patients with distinct clinical...

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PMID: 19380703
DOI: 10.1212/WNL.0b013e3181a1885e

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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