Familial hypertrophic cardiomyopathy and muscle carnitine deficiency.

Abstract:

:Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac symptoms and echocardiographic findings improved after treatment with L-carnitine, 3-4 g daily, and a long-chain fatty-acid-free diet.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Bautista J,Rafel E,Martinez A,Sainz I,Herrera J,Segura L,Chinchon I

doi

10.1002/mus.880130303

subject

Has Abstract

pub_date

1990-03-01 00:00:00

pages

192-4

issue

3

eissn

0148-639X

issn

1097-4598

journal_volume

13

pub_type

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