|
MCID: NML024
MIFTS: 21
|
Nemaline Myopathy 11, Autosomal Recessive
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Nemaline Myopathy 11, Autosomal Recessive:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset in first decade four unrelated japanese patients have been reported (last curated february 2017) HPO:32
nemaline myopathy 11, autosomal recessive:
Onset and clinical course slow progression Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Muscle diseases Neuronal diseases |
|
OMIM
:
57
NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).
For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (617336)
MalaCards based summary : Nemaline Myopathy 11, Autosomal Recessive, is also known as nem11. An important gene associated with Nemaline Myopathy 11, Autosomal Recessive is MYPN (Myopalladin). Related phenotypes are high palate and cardiomyopathy Disease Ontology : 12 A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has material basis in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. UniProtKB/Swiss-Prot : 75 Nemaline myopathy 11: 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. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. |
Diseases in the Nemaline Myopathy family: |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617336Human phenotypes related to Nemaline Myopathy 11, Autosomal Recessive:32 (show all 8)
|
|
|
Genes related to Nemaline Myopathy 11, Autosomal Recessive (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Nemaline Myopathy 11, Autosomal Recessive:6
|
|
Search
GEO
for disease gene expression data for Nemaline Myopathy 11, Autosomal Recessive.
|
|
|
|