X-Linked Dominant Scapuloperoneal Myopathy

Preferred Label : X-Linked Dominant Scapuloperoneal Myopathy;

NCIt synonyms : SPM;

NCIt definition : An X-linked dominant condition caused by mutation(s) in the FHL1 gene, encoding four and a half LIM domains protein 1. It is characterized by weakness in the shoulder-girdle and peroneal muscles.;

Details

Origin ID

C206103;

Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

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