In:
Neurology and Clinical Neuroscience, Wiley, Vol. 10, No. 6 ( 2022-11), p. 315-317
Abstract:
We describe the case of a 70‐year‐old man with centronuclear myopathy (CNM) who developed limb weakness at the age of 55 years. At the age of 64, facial and limb weakness of MRC grade 4 was apparent. Biopsy of the deltoid muscle revealed abundant fibers with central nuclei and radial strands. Genetic analysis revealed a novel heterozygous missense variant of DNM2 (NM_001005360.3:c.1852G 〉 C, p.A618P). Although generally patients with DNM2 ‐related CNM harboring a variant in codon 618 demonstrate a severe phenotype with neonatal onset, our case suggests that this particular variant could lead to a late adult‐onset form of CNM.
Type of Medium:
Online Resource
ISSN:
2049-4173
,
2049-4173
Language:
English
Publisher:
Wiley
Publication Date:
2022
detail.hit.zdb_id:
2706717-8
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