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Article

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.

Neuromuscular disorders : NMD - 1 Aug 2013

Morrow Jasper M, Matthews Emma, Raja Rayan Dipa L, Fischmann Arne, Sinclair Christopher D J, Reilly Mary M, Thornton John S, Hanna Michael G, Yousry Tarek A

Abstract excerpt

We assessed the presence, frequency and pattern of MRI abnormalities in non-dystrophic myotonia patients. We reviewed T1-weighted and STIR (short-tau-inversion-recovery) 3T MRI sequences of lower limb muscles at thigh and calf level in 21 patients with genetically confirmed non-dystrophic myotonia: 11 with CLCN1 mutations and 10 with SCN4A mutations, and 19 healthy volunteers. The MRI examinations of all patients...

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Identifiers

PMID: 23810313
DOI: 10.1016/j.nmd.2013.05.001
PMCID: PMC3744809

Genes

CLCN1

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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