myoglobinuria—acute recurrent—autosomal recessive

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myoglobinuria—acute recurrent—autosomal recessive2016-11-27T12:55:14+00:00

myoglobinuria—acute recurrent—autosomal recessive

METABOLISM, NEPHROLOGY

Definition An autosomal recessive condition (OMIM:268200) characterised by recurrent attacks of rhabdomyolysis, muscle pain and weakness, followed by myoglobinuria, occasionally leading to renal failure.

Molecular pathology Defects of LPIN1, which encodes a magnesium-dependent phosphatidate phosphatase, cause myoglobinuria—acute recurrent—autosomal recessive. 

Synonyms Myoglobinuria—familial paroxysmic paralytic, rhabdomyolysis—acute recurrent

References http://www.uniprot.org/uniprot/Q14693

http://www.omim.org/entry/268200 

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