NEMALINE MYOPATHY 1

General Information (adopted from Orphanet):

Synonyms, Signs: NEM1 CAP MYOPATHY 1, INCLUDED
CAPM1, INCLUDED
Number of Symptoms 23
OrphanetNr:
OMIM Id: 609284
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000275) Narrow face 76 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0000276) Long face 109 / 7739
4
(HPO:0000467) Neck muscle weakness 29 / 7739
5
(HPO:0001349) Facial diplegia 16 / 7739
6
(HPO:0002015) Dysphagia 301 / 7739
7
(HPO:0001371) Flexion contracture 220 / 7739
8
(HPO:0001761) Pes cavus 225 / 7739
9
(HPO:0002650) Scoliosis 705 / 7739
10
(HPO:0002093) Respiratory insufficiency 410 / 7739
11
(HPO:0003701) Proximal muscle weakness 105 / 7739
12
(HPO:0008944) Distal lower limb amyotrophy 12 / 7739
13
(HPO:0009053) Distal lower limb muscle weakness 13 / 7739
14
(HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
15
(OMIM) [DEL]EMG shows myopathic changes 27 / 7739
16
(OMIM) Delayed motor development due to muscle weakness 1 / 7739
17
(OMIM) Cap structures, when present, contain disorganized myofibrils and thickened Z bands 2 / 7739
18
(OMIM) Normal neonatal period may occur before weakness is apparent 1 / 7739
19
(OMIM) Muscle biopsy shows subsarcolemmal nemaline bodies (rods) on Gomori trichrome staining 1 / 7739
20
(OMIM) Independent walking may not be achieved 1 / 7739
21
(OMIM) Restricted vital capacity 1 / 7739
22
(OMIM) Nemaline bodies occur in type 1 fibers 1 / 7739
23
(OMIM) Both type 1 and type 2 fiber predominance has been reported 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Laing et al. (1992) reported a large 5-generation family with childhood-onset nemaline myopathy inherited in an autosomal dominant pattern. The proband had normal motor development until approximately 10 years of age, when he developed symmetrical weakness in foot ...
Molecular genetics OMIM In affected members of a large family with autosomal dominant childhood-onset nemaline myopathy, Laing et al. (1995) identified a heterozygous mutation in the TPM3 gene (191030.0001).

Tan et al. (1999) identified a homozygous nonsense mutation in ...