Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2


rs869025292 in ENTR1;PMPCA gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

rs746549806 in PMPCA gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.