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Article

[Proximal myotonic myopathy (PROMM). Clinical variability within a family].

Der Nervenarzt - 1 Oct 1997

Eger K, Schulte-Mattler W J, Zierz S

Abstract excerpt

Proximal myotonic myopathy (PROMM) is a newly described autosomal dominant inherited disorder characterized by predominant proximal weakness of the legs, mild clinical myotonia or myotonia on electromyograms (EMG), cataracts and slight elevation of liver enzymes. The trinucleotide (cytosine, thymine, and guanine) repeat size of the myotonic dystrophy (DM) gene is normal. Magnetic resonance imaging of the brain...

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Source

Identifiers

PMID: 9441258
DOI: 10.1007/s001150050203

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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