Further studies of mitochondrial and lipid storage myopathies

Walter G Bradley, B. E. Tomlinson, M. Hardy

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Further observations on a family with facioscapulohumeral (FSH) muscular dystrophy due to mitochondrial myopathy, and on a case with lipid storage myopathy are reported. One member of the family with FSH muscular dystrophy died due to a viral pneumonia, during which she developed gross hyperlacticacidaemia and acidosis. Autopsy examination showed that the mitochondrial morphological abnormality was restricted to the skeletal muscle. Two other members of the family, who also had mitochondrial myopathy, have developed a cerebellar syndrome. The skeletal muscle carnitine level in the propositus of this family was normal. A woman with lipid storage myopathy has been shown to have skeletal muscle carnitine deficiency, the plasma carnitine level being only slightly lower than normal.

Original languageEnglish
Pages (from-to)201-210
Number of pages10
JournalJournal of the Neurological Sciences
Volume35
Issue number2-3
DOIs
StatePublished - Jan 1 1978
Externally publishedYes

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Carnitine
Facioscapulohumeral Muscular Dystrophy
Mitochondrial Myopathies
Skeletal Muscle
Viral Pneumonia
Cerebellar Diseases
Acidosis
Autopsy
Myopathy with Abnormal Lipid Metabolism

ASJC Scopus subject areas

  • Aging
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

Cite this

Further studies of mitochondrial and lipid storage myopathies. / Bradley, Walter G; Tomlinson, B. E.; Hardy, M.

In: Journal of the Neurological Sciences, Vol. 35, No. 2-3, 01.01.1978, p. 201-210.

Research output: Contribution to journalArticle

Bradley, Walter G ; Tomlinson, B. E. ; Hardy, M. / Further studies of mitochondrial and lipid storage myopathies. In: Journal of the Neurological Sciences. 1978 ; Vol. 35, No. 2-3. pp. 201-210.
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