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NEM7
MCID: NML010
MIFTS: 21
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Nemaline Myopathy 7 (NEM7)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nemaline Myopathy 7:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset in early childhood two unrelated families have been reported (last curated august 2013) HPO:33
nemaline myopathy 7:
Onset and clinical course slow progression Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Muscle diseases Neuronal diseases Bone diseases |
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OMIM
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58
Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).
For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (610687)
MalaCards based summary : Nemaline Myopathy 7, is also known as nemaline myopathy 7, autosomal recessive. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2). Related phenotypes are respiratory insufficiency due to muscle weakness and high palate Disease Ontology : 12 A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13. UniProtKB/Swiss-Prot : 76 Nemaline myopathy 7: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. |
Human phenotypes related to Nemaline Myopathy 7:33 (show all 14)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:610687 |
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Genes related to Nemaline Myopathy 7 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 7:76
ClinVar genetic disease variations for Nemaline Myopathy 7:6 (show all 18)
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Search
GEO
for disease gene expression data for Nemaline Myopathy 7.
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