A Pseudo-Hypertrophic Family
نویسندگان
چکیده
منابع مشابه
"Pseudo" hypertrophic neuropathy of childhood.
A 9 year old boy had chronic progressive motor-sensory neuropathy that started in early infancy. He had enlarged nerves and pes cavus deformity. Motor conduction studies showed very dispersed, polyphasic compound muscle action potentials with conduction velocities around 2 m/s. A sural nerve biopsy showed severe loss of myelinated fibres. Two months of treatment with corticosteroids restored mu...
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Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which is caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere (1). Apical hypertrophic cardiomyopathy (AHCM) is an uncommon type of HCM. The sudden cardiac death is less likely to occur in the patients inflicted with AHCM (2). Herein, we presented the case of a 29-year-old man ...
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ژورنال
عنوان ژورنال: BMJ
سال: 1894
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.1.1730.399