Myopathy, Myofibrillar, 7 (MFM7)

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Disease Ontology 12 DOID:0080098 OMIM 57 617114 PS601419 MeSH 44 D020914

Orphanet 59 ORPHA496686 MedGen 42 C4310711 CN238489

UniProtKB/Swiss-Prot : ⁷⁴ Myopathy, myofibrillar, 7: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures.

MalaCards based summary : Myopathy, Myofibrillar, 7, is also known as mfm7. An important gene associated with Myopathy, Myofibrillar, 7 is KY (Kyphoscoliosis Peptidase). Affiliated tissues include tongue and skeletal muscle, and related phenotypes are kyphosis and hyperlordosis

Disease Ontology : ¹² A myofibrillar myopathy that has material basis in homozygous mutation in the KY gene on chromosome 3q22.

OMIM : ⁵⁷ Myofibrillar myopathy-7 is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (617114)

Clinical features from OMIM:

617114

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