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[Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita].

Zhonghua nei ke za zhi - 1 Jul 2020

Song J, Zhang J W, Fu J, Pang M, Li G, Ma M M

Abstract excerpt

Objective: To investigate the clinical, myopathological and genetic mutation characteristics in two Chinese families with paramyotonia congenita (PMC). Methods: Clinical manifestations, electrophysiology, muscle pathology and gene sequencing of two Chinese families with PMC were analyzed retrospectively. Results: Family 1 involved 12 patients in 4 consecutive generations and family 2 involved only 1 patient in 3...

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PMID: 32594687
DOI: 10.3760/cma.j.cn112138-20191014-00690

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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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