Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
نویسندگان
چکیده
منابع مشابه
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
Case report. A 57-year-old woman, born to parents of Gujarati Indian descent (figure, A), presented at age 19 with pain and stiffness in her calves and a tendency to trip. In her 20s, a formal neurologic examination demonstrated predominantly distal lower limb weakness and normal upper limb muscle strength. Motor and sensory nerve conduction studies were normal with the exception that no motor ...
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OBJECTIVE To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein ...
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BACKGROUND Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness. METHODS We report a case of a patient presenting with...
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We herein describe a Japanese family with distal hereditary motor neuropathy carrying a K141Q mutation of small heat shock protein HSPB1. Two patients among them had late onset disease (older than 50 years). The muscles of the distal legs were weak and atrophic. Sensory and autonomic dysfunction were not seen. Even eight years after onset, one patient could still walk without support. A nerve c...
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Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and aut...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2017
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000168