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Novel CHKB mutation expands the megaconial muscular dystrophy phenotype
Author(s) -
CabreraSerrano Macarena,
Junckerstorff Reimar C.,
Atkinson Vanessa,
Sivadorai Padma,
Allcock Richard J.,
Lamont Phillipa,
Laing Nigel G.
Publication year - 2015
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24446
Subject(s) - hypotonia , muscle biopsy , exome sequencing , medicine , exon , muscular dystrophy , dysferlin , muscle weakness , limb girdle muscular dystrophy , myopathy , mutation , genetics , weakness , phenotype , dystonia , muscle contracture , pathology , anatomy , biology , gene , biopsy , psychiatry
: Mutations in the choline kinase beta ( CHKB ) gene are associated with a congenital muscular dystrophy with giant mitochondria at the periphery of muscle fibers. Methods : We describe a patient of Italian origin in whom whole‐exome sequencing revealed a novel homozygous nonsense mutation, c.648C>A, p.(Tyr216*), in exon 5 of CHKB . Results : The patient presented with limb‐girdle weakness and hypotonia from birth with mental retardation, and had sudden and transient deteriorations of muscle strength with acute intercurrent illnesses. Previously undescribed sarcolemmal overexpression of utrophin was noted in the muscle biopsy. Conclusions : Pathological features broaden the description of the entity and provide new insight in the pathogenic mechanisms. This case highlights the usefulness of next‐generation sequencing in the diagnosis of rare and incompletely understood conditions. Muscle Nerve 51 : 140–143, 2015