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NEM9
MCID: NML021
MIFTS: 23
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Nemaline Myopathy 9 (NEM9)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nemaline Myopathy 9:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
highly variable severity onset at birth or in utero static or slowly progressive some more severely affected patients may die in infancy HPO:32
nemaline myopathy 9:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Muscle diseases Neuronal diseases Bone diseases |
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OMIM
:
57
Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).
For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (615731)
MalaCards based summary : Nemaline Myopathy 9, is also known as nem9, and has symptoms including muscle weakness An important gene associated with Nemaline Myopathy 9 is KLHL41 (Kelch Like Family Member 41). Related phenotypes are high palate and respiratory insufficiency Disease Ontology : 12 A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has material basis in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. UniProtKB/Swiss-Prot : 74 Nemaline myopathy 9: An autosomal recessive 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. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. |
Human phenotypes related to Nemaline Myopathy 9:32 (show all 11)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615731UMLS symptoms related to Nemaline Myopathy 9:muscle weakness |
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Articles related to Nemaline Myopathy 9:
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Genes related to Nemaline Myopathy 9 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nemaline Myopathy 9:6 (show all 40)
UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 9:74
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Search
GEO
for disease gene expression data for Nemaline Myopathy 9.
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