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Article

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Neuromuscular disorders : NMD - 1 Mar 2012

Hedberg Carola, Lindberg Christopher, Máthé Gyöngyvér, Moslemi Ali-Reza, Oldfors Anders

Abstract excerpt

We have investigated a woman and her daughter with an early onset, slowly progressive myopathy. Muscle biopsy showed in both cases severe atrophy with marked fatty replacement. Frequent fibers with internalized nuclei were present but no typical features of centronuclear myopathy. There were also many fibers with deep invaginations of the plasma membrane. The presence of necklace fibers provided clue to correct...

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Source

Identifiers

PMID: 22101172
DOI: 10.1016/j.nmd.2011.10.010

Genes

MTM1

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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