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Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.

ABSTRACT:

SUBMITTER: Kocoglu C 

PROVIDER: S-EPMC5773845 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Homozygous <i>CAPN1</i> mutations causing a spastic-ataxia phenotype in 2 families.

Kocoglu Cemile C   Gundogdu Asli A   Kocaman Gulsen G   Kahraman-Koytak Pinar P   Uluc Kayihan K   Kiziltan Gunes G   Caglayan Ahmet Okay AO   Bilguvar Kaya K   Vural Atay A   Basak A Nazli AN  

Neurology. Genetics 20180118 1

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