Metadata | |
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ID | DOID:0110929 |
Name | nemaline myopathy 9 |
Definition | A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/24268659 |
Xrefs | |
Synonyms |
NEM9 [EXACT] |
Parent Relationships |
is_a autosomal recessive disease is_a nemaline myopathy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |