Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy.

Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Research Abstract Details 

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Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Abstract Text:

T Matsuishi,K Hirata,K Terasawa,H Kato,M Yoshino,E Ohtaki,F Hirose,I Nonaka,N Sugiyama,K Ohta,T Matsuishi,K Hirata,K Terasawa,H Kato,M Yoshino,E Ohtaki,F Hirose,I Nonaka,N Sugiyama,K Ohta,

Two Japanese siblings had lipid storage myopathy with hypertrophic cardiomyopathy (HCM). They had slowly progressive muscle weakness and ventricular hypertrophy of the heart evidenced by electrocardiography and echocardiography. Their developmental milestones were normal until three years of age when mild weakness in the lower limbs became evident. Laboratory examination showed transient high creatine kinase levels (CK) and hyperammonemia. Histochemical investigation on the muscles revealed abnormal accumulation of sudanophilic lipid droplets predominantly in type 1 fibers, type 2 A fiber atrophy and type 2 B fiber deficiency. In case 1, excessive lipid droplets were also observed in the biopsied cardiac muscle. Carnitine was decreased in the skeletal muscles and the serum. Treatment with DL-carnitine to both cases resulted in marked clinical improvement and decreased lipid droplets in the muscles.

Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Publishing Authors By Initials

T Matsuishi,K Hirata,K Terasawa,H Kato,M Yoshino,E Ohtaki,F Hirose,I Nonaka,N Sugiyama,K Ohta,T Matsuishi,K Hirata,K Terasawa,H Kato,M Yoshino,E Ohtaki,F Hirose,I Nonaka,N Sugiyama,K Ohta,

For similar musculoskeletal diseases: muscular diseases research abstracts see: musculoskeletal diseases: muscular diseases research

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Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropediatrics

VOLUME: 16

Page Numbers: 6-12

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Feb

YEAR: 1985

Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Keywords Mesh Terms:

KEYWORDS: Muscular Diseases

MESH TERMS: pathology

Chemical & Substance for Abstract: Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Information

Substance Name: Carnitine

Registry Number: 541-15-1

Grant and Affiliation Information for Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy.

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Country: GERMANY, WEST

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MEDLINETA: Neuropediatrics

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