NEM7
MCID: NML010
MIFTS: 22

Nemaline Myopathy 7 (NEM7)

Categories: Bone diseases, Fetal diseases, 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). Affiliated tissues include bone, and 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 14)
# 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 generalized hypotonia 32 HP:0001290
10 neck muscle weakness 32 HP:0000467
11 gowers sign 32 HP:0003391
12 delayed gross motor development 32 HP:0002194
13 myofibrillar myopathy 32 HP:0003715
14 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

MalaCards organs/tissues related to Nemaline Myopathy 7:

41
Bone

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 (show all 18)
# 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 Uncertain significance rs397515451 GRCh37 Chromosome 14, 35182752: 35182752
4 CFL2 NM_138638.4(CFL2): c.19G> A (p.Val7Met) single nucleotide variant Uncertain significance rs397515451 GRCh38 Chromosome 14, 34713546: 34713546
5 CFL2 NM_021914.7(CFL2): c.457T> G (p.Leu153Val) single nucleotide variant Uncertain significance rs587780312 GRCh37 Chromosome 14, 35182115: 35182115
6 CFL2 NM_021914.7(CFL2): c.457T> G (p.Leu153Val) single nucleotide variant Uncertain significance rs587780312 GRCh38 Chromosome 14, 34712909: 34712909
7 CFL2 NM_021914.7(CFL2): c.255C> T (p.Tyr85=) single nucleotide variant Likely benign rs1057523939 GRCh37 Chromosome 14, 35182516: 35182516
8 CFL2 NM_021914.7(CFL2): c.255C> T (p.Tyr85=) single nucleotide variant Likely benign rs1057523939 GRCh38 Chromosome 14, 34713310: 34713310
9 CFL2 NM_021914.7(CFL2): c.389-9delT deletion Likely benign GRCh37 Chromosome 14, 35182192: 35182192
10 CFL2 NM_021914.7(CFL2): c.389-9delT deletion Likely benign GRCh38 Chromosome 14, 34712986: 34712986
11 CFL2 NM_021914.7(CFL2): c.357C> T (p.Ser119=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 35182297: 35182297
12 CFL2 NM_021914.7(CFL2): c.357C> T (p.Ser119=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 34713091: 34713091
13 CFL2 NM_021914.7(CFL2): c.388G> C (p.Gly130Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 35182266: 35182266
14 CFL2 NM_021914.7(CFL2): c.388G> C (p.Gly130Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 34713060: 34713060
15 CFL2 NC_000014.9: g.(?_34712845)_(34714560_?)dup duplication Uncertain significance GRCh37 Chromosome 14, 35182051: 35183766
16 CFL2 NC_000014.9: g.(?_34712845)_(34714560_?)dup duplication Uncertain significance GRCh38 Chromosome 14, 34712845: 34714560
17 CFL2 NC_000014.9: g.(?_34712845)_(34714560_?)del deletion Uncertain significance GRCh38 Chromosome 14, 34712845: 34714560
18 CFL2 NC_000014.9: g.(?_34712845)_(34714560_?)del deletion Uncertain significance GRCh37 Chromosome 14, 35182051: 35183766

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

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