Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
rigid spine muscular dystrophy 1
Congenital myopathy 3 with rigid spine
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
07/16/2020
PubMed IDs:
32154989 11528383 12192640 15668457 15792869 15961312 16498447 17951086 20937510 21670436 23394784 25808192 26780752 26841830 28558865 28606403 28688748 29172004 29850975 30642275 31066047
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

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