MFM8
MCID: MYP118
MIFTS: 31
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Myopathy, Myofibrillar, 8 (MFM8)
Categories:
Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myopathy, Myofibrillar, 8:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset in childhood (range infancy to 8 years) HPO:31
myopathy, myofibrillar, 8:
Inheritance autosomal recessive inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases Anatomical: Muscle diseases Neuronal diseases Cardiovascular diseases |
UniProtKB/Swiss-Prot :
73
Myopathy, myofibrillar, 8: 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. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present.
MalaCards based summary : Myopathy, Myofibrillar, 8, also known as myofibrillar myopathy 8, is related to congenital muscular dystrophy-dystroglycanopathy a14 and spinocerebellar ataxia, autosomal recessive 10. An important gene associated with Myopathy, Myofibrillar, 8 is PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1). Affiliated tissues include lung, and related phenotypes are scoliosis and neonatal hypotonia Disease Ontology : 12 A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. OMIM : 56 Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (617258) |
Human phenotypes related to Myopathy, Myofibrillar, 8:31 (show all 28)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617258 |
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MalaCards organs/tissues related to Myopathy, Myofibrillar, 8:40
Lung
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Articles related to Myopathy, Myofibrillar, 8:
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ClinVar genetic disease variations for Myopathy, Myofibrillar, 8:6
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 8:73
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Search
GEO
for disease gene expression data for Myopathy, Myofibrillar, 8.
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Biological processes related to Myopathy, Myofibrillar, 8 according to GeneCards Suite gene sharing:
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