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May 1, 1988Neurology

Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance

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Population

4 family members in two generations suffering from impaired muscle relaxation aggravated by exercise

Design

Case_series

Authors

MDMoris J. DanonGKGeorge KarpatiJCJeffrey H. M. Charuk

Discussion

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Overview

May expand the differential for unexplained myopathies; leaves open genetic confirmation and phenotypic spectrum.

Structured PICO

P
Population
4 family members in two generations (mother, her son, and two daughters) suffering from impaired muscle relaxation aggravated by exercise
O
Outcome
Identification of sarcoplasmic reticulum adenosine triphosphatase (SR-ATPase) deficiencysurrogate

This report identifies a clinically and biochemically distinct metabolic myopathy associated with SR-ATPase deficiency exhibiting a probable autosomal dominant inheritance pattern.

Cite This Study

Danon et al. (1988) studied this question.

synapsesocial.com/papers/6a72bd3f75498292b70bb32bhttps://doi.org/10.1212/wnl.38.5.812
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Myopathy caused by a deficiency of Ca<sup>2+</sup>‐adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)1986 · 107 citations
  2. 2Dominant rhabdomyolysis linked to a recurrent <i>ATP2A2</i> variant reducing SERCA2 function in muscle2025 · 5 citations
  3. 3Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome.1988 · 53 citations
  4. 4Studies of fragmented sarcoplasmic reticulum from human skeletal muscle1978 · 5 citations
  5. 5Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy1981 · 21 citations