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H663

Centronuclear myopathy 1, also known as autosomal dominant centronuclear myopathy (ADCNM) is a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization and mitochondrial mispositioning.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Centronuclear myopathy 1, also known as autosomal dominant centronuclear myopathy (ADCNM) is a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization and mitochondrial mispositioning. In literature, a variant in the DNM2 gene has been described as causative for Border Collies.

Clinical features

Changes in the muscles on cellular level causing muscle atrophy, therefore reduced muscle thickness and impaired gait.

Additional information

References

Pubmed ID: 35244154

Omia ID: 2534

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