Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations

Véronique Bissay, Ricardo A. Maselli

Research output: Contribution to journalArticle

Abstract

INTRODUCTION: Mutations in the Dok-7 gene (DOK7) underlie a congenital myasthenic syndrome (CMS) with a characteristic limb-girdle (LG) pattern of muscle weakness. Multiple clinical findings and a wide clinical heterogeneity have been identified in this form of CMS. METHODS: We describe here 2 unrelated adult patients who presented with a LG CMS, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*). RESULTS: Although both patients presented with severe proximal weakness consistent with LG myasthenia, one of the patients presented with additional distal muscle involvement in the lower extremities. By contrast, the other patient had severe bulbar and respiratory deficit requiring gastric tube feeding and mechanical ventilatory support for most parts of the day. DISCUSSION: These 2 cases illustrate the lack of phenotype-genotype correlation and the absence of geographic, genetic, and ethnic association in cases of LG CMS caused by DOK7 mutations.

Original languageEnglish (US)
Pages (from-to)30-34
Number of pages5
JournalJournal of clinical neuromuscular disease
Volume21
Issue number1
DOIs
StatePublished - Sep 1 2019

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Congenital Myasthenic Syndromes
Extremities
Mutation
Genes
Muscle Weakness
Genetic Association Studies
Enteral Nutrition
Lower Extremity
Muscles

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations. / Bissay, Véronique; Maselli, Ricardo A.

In: Journal of clinical neuromuscular disease, Vol. 21, No. 1, 01.09.2019, p. 30-34.

Research output: Contribution to journalArticle

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