MCID: NML010
MIFTS: 21

Nemaline Myopathy 7

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nemaline Myopathy 7

MalaCards integrated aliases for Nemaline Myopathy 7:

Name: Nemaline Myopathy 7 57 12 75 29 13 6 73
Nemaline Myopathy 7, Autosomal Recessive 57 12 75
Nem7 57 12 75
Cfl2-Related Nemaline Myopathy 75
Myopathy, Nemaline, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in early childhood
two unrelated families have been reported (last curated august 2013)


HPO:

32
nemaline myopathy 7:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nemaline Myopathy 7

OMIM : 57 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 high palate and muscular hypotonia

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 : 75 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.

Related Diseases for Nemaline Myopathy 7

Symptoms & Phenotypes for Nemaline Myopathy 7

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
joint hypermobility

Head And Neck Neck:
neck muscle weakness

Neurologic Central Nervous System:
delayed motor development
abnormal gait
loss of independent ambulation (in some patients)

Respiratory:
respiratory insufficiency due to muscle weakness (in some patients)

Neurologic Peripheral Nervous System:
areflexia

Muscle Soft Tissue:
hypotonia
type 1 fiber predominance
gower sign
muscle weakness, mainly proximal and axial
fiber type variation seen on biopsy
more
Head And Neck Mouth:
high-arched palate


Clinical features from OMIM:

610687

Human phenotypes related to Nemaline Myopathy 7:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 muscular hypotonia 32 HP:0001252
3 gait disturbance 32 HP:0001288
4 muscle weakness 32 HP:0001324
5 respiratory insufficiency due to muscle weakness 32 occasional (7.5%) HP:0002747
6 nemaline bodies 32 HP:0003798
7 joint hypermobility 32 HP:0001382
8 areflexia 32 HP:0001284
9 neck muscle weakness 32 HP:0000467
10 delayed gross motor development 32 HP:0002194
11 generalized hypotonia 32 HP:0001290
12 gowers sign 32 HP:0003391
13 minicore myopathy 32 HP:0003789

Drugs & Therapeutics for Nemaline Myopathy 7

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 7

Genetic Tests for Nemaline Myopathy 7

Genetic tests related to Nemaline Myopathy 7:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 7 29 CFL2

Anatomical Context for Nemaline Myopathy 7

Publications for Nemaline Myopathy 7

Variations for Nemaline Myopathy 7

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 7:

75
# Symbol AA change Variation ID SNP ID
1 CFL2 p.Ala35Thr VAR_031989 rs80358250

ClinVar genetic disease variations for Nemaline Myopathy 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFL2 NM_138638.4(CFL2): c.103G> A (p.Ala35Thr) single nucleotide variant Pathogenic rs80358250 GRCh37 Chromosome 14, 35182668: 35182668
2 CFL2 NM_138638.4(CFL2): c.103G> A (p.Ala35Thr) single nucleotide variant Pathogenic rs80358250 GRCh38 Chromosome 14, 34713462: 34713462
3 CFL2 NM_138638.4(CFL2): c.19G> A (p.Val7Met) single nucleotide variant Pathogenic rs397515451 GRCh37 Chromosome 14, 35182752: 35182752
4 CFL2 NM_138638.4(CFL2): c.19G> A (p.Val7Met) single nucleotide variant Pathogenic rs397515451 GRCh38 Chromosome 14, 34713546: 34713546
5 CFL2 NM_021914.7(CFL2): c.255C> T (p.Tyr85=) single nucleotide variant Likely benign rs1057523939 GRCh37 Chromosome 14, 35182516: 35182516
6 CFL2 NM_021914.7(CFL2): c.255C> T (p.Tyr85=) single nucleotide variant Likely benign rs1057523939 GRCh38 Chromosome 14, 34713310: 34713310
7 CFL2 NM_021914.7(CFL2): c.389-9delT deletion Likely benign GRCh38 Chromosome 14, 34712986: 34712986
8 CFL2 NM_021914.7(CFL2): c.389-9delT deletion Likely benign GRCh37 Chromosome 14, 35182192: 35182192
9 CFL2 NM_021914.7(CFL2): c.357C> T (p.Ser119=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 35182297: 35182297
10 CFL2 NM_021914.7(CFL2): c.357C> T (p.Ser119=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 34713091: 34713091

Expression for Nemaline Myopathy 7

Search GEO for disease gene expression data for Nemaline Myopathy 7.

Pathways for Nemaline Myopathy 7

GO Terms for Nemaline Myopathy 7

Sources for Nemaline Myopathy 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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