NEMALINE MYOPATHY 7

General Information (adopted from Orphanet):

Synonyms, Signs: NEM7
Number of Symptoms 24
OrphanetNr:
OMIM Id: 610687
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000467) Neck muscle weakness 29 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0001288) Gait disturbance 318 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0001284) Areflexia 198 / 7739
6
(HPO:0002194) Delayed gross motor development 17160903 IBIS 37 / 7739
7
(HPO:0001382) Joint hypermobility 231 / 7739
8
(HPO:0002747) Respiratory insufficiency due to muscle weakness rare [HPO:skoehler] 48 / 7739
9
(HPO:0001324) Muscle weakness 17160903 IBIS 859 / 7739
10
(HPO:0003789) Minicore myopathy 17160903 IBIS 1 / 7739
11
(HPO:0003798) Nemaline bodies 17160903 IBIS 12 / 7739
12
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
(HPO:0010547) Muscle flaccidity 466 / 7739
14
(HPO:0003391) Gowers sign 37 / 7739
15
(HPO:0001252) Muscular hypotonia 17160903 IBIS 990 / 7739
16
(OMIM) Loss of independent ambulation 5 / 7739
17
(OMIM) Muscle weakness, mainly proximal and axial 1 / 7739
18
(OMIM) Protein aggregates resembling myofibrillar myopathy may be present 1 / 7739
19
(OMIM) Minicores or core-like regions may be present 1 / 7739
20
(OMIM) Muscle biopsy shows dystrophic features 3 / 7739
21
(OMIM) Fiber type variation seen on biopsy 1 / 7739
22
(HPO:0003677) Slow progression 134 / 7739
23
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
(OMIM) Type 1 fiber predominance 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Agrawal et al. (2007) described 2 sibs from a large consanguineous Middle Eastern family, identified in a screen of patients with congenital myopathies, with nemaline myopathy. Both patients had similar clinical presentations, with hypotonia noted at birth, delayed ...
Molecular genetics OMIM On the basis of the role of cofilin-2 in regulation of sarcomeric actin filaments, Agrawal et al. (2007) screened 113 unrelated patients with nemaline myopathy and 58 patients with clinicopathologic diagnoses of other congenital myopathies for mutations in ...