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MFM7
MCID: MYP119
MIFTS: 30
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Myopathy, Myofibrillar, 7 (MFM7)
Categories:
Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myopathy, Myofibrillar, 7:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset in early childhood three patients from 2 unrelated consanguineous families have been reported (last curated september 2016) HPO:31
myopathy, myofibrillar, 7:
Inheritance autosomal recessive inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases
Orphanet: 58
Rare neurological diseases |
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UniProtKB/Swiss-Prot :
73
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, also known as myofibrillar myopathy 7, is related to congenital muscular dystrophy-dystroglycanopathy a14 and leukodystrophy, hypomyelinating, 10. 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 elevated serum creatine kinase Disease Ontology : 12 A myofibrillar myopathy that has material basis in homozygous mutation in the KY gene on chromosome 3q22. OMIM : 56 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) |
Human phenotypes related to Myopathy, Myofibrillar, 7:31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617114GenomeRNAi Phenotypes related to Myopathy, Myofibrillar, 7 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Myopathy, Myofibrillar, 7:40
Tongue,
Skeletal Muscle
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Articles related to Myopathy, Myofibrillar, 7:
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Genes related to Myopathy, Myofibrillar, 7 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 7:6
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Search
GEO
for disease gene expression data for Myopathy, Myofibrillar, 7.
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Biological processes related to Myopathy, Myofibrillar, 7 according to GeneCards Suite gene sharing:
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