Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.

doi:10.1016/j.nmd.2021.01.009

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Article

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.

Neuromuscular disorders : NMD - 1 Apr 2021

Moore Ursula, Gordish Heather, Diaz-Manera Jordi, James Meredith K, Mayhew Anna G, Guglieri Michela, Fernandez-Torron Roberto, Rufibach Laura E, Feng Jia, Blamire Andrew M, Carlier Pierre G, Spuler Simone, Day John W, Jones Kristi J, Bharucha-Goebel Diana X, Salort-Campana Emmanuelle, Pestronk Alan, Walter Maggie C, Paradas Carmen, Stojkovic Tanya, Mori-Yoshimura Madoka, Bravver Elena, Pegoraro Elena, Lowes Linda Pax, Mendell Jerry R, Bushby Kate, Straub Volker

Abstract excerpt

This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing predominant distal lower limb weakness. We used heatmaps, regression...

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Identifiers

PMID: 33610434
DOI: 10.1016/j.nmd.2021.01.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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