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Article

A DM1 patient with CCG variant repeats: Reaching the diagnosis.

Neuromuscular disorders : NMD - 1 Mar 2021

Cumming Sarah A, Oliwa Agata, Stevens Gillian, Ballantyne Bob, Mann Cameron, Razvi Saif, Longman Cheryl, Monckton Darren G, Farrugia Maria Elena

Abstract excerpt

We report the case of a male patient presenting in his 50s with ptosis, facial and distal limb muscle weakness, clinical and electrical myotonia, and a prior history of cataract extraction. He had a dominant family history in keeping with a similar phenotype. Myotonic dystrophy type 1 was clinically suspected. Triplet-primed polymerase chain reaction in a diagnostic laboratory did not identify a typical CTG...

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Identifiers

PMID: 33546847
DOI: 10.1016/j.nmd.2020.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A DM1 patient with CCG variant repeats: Reaching the diagnosis.PMID 33546847Read ↗

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