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Article

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

Muscle & nerve - 1 Nov 2011

Gavassini Bruno F, Carboni Nicola, Nielsen Jørgen E, Danielsen Else R, Thomsen Carsten, Svenstrup Kirsten, Bello Luca, Maioli Maria Antonietta, Marrosu Giovanni, Ticca Anna Filomena, Mura Marco, Marrosu Maria Giovanna, Soraru Gianni, Angelini Corrado, Vissing John, Pegoraro Elena

Abstract excerpt

INTRODUCTION: In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations. METHODS: Five patients clinically diagnosed with LGMD and showing brain white matter hyperintensities on MRI were evaluated using laminin α2 genetic and protein testing. RESULTS: The patients had slowly progressive, mild muscular dystrophy with various degrees of CNS...

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Source

Identifiers

PMID: 21953594
DOI: 10.1002/mus.22132

Genes

LAMA2

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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