Autosomal recessive limb-girdle muscular dystrophy type 2N

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2N
MDDGC2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N
Number of Symptoms 13
OrphanetNr: 206559
OMIM Id: 613158
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Disorder of O-mannosylglycan synthesis
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of protein O-mannosyltransferase 2
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001270) Motor delay 322 / 7739
2
 (HPO:0011712) Right bundle branch block rare [HPO:skoehler] 34 / 7739
3
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
 (HPO:0003701) Proximal muscle weakness 105 / 7739
5
 (HPO:0003560) Muscular dystrophy 88 / 7739
6
 (HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Decreased glycosylation of alpha-dystroglycan 6 / 7739
9
 (OMIM) Decreased IQ 3 / 7739
10
 (HPO:0003828) Variable expressivity 130 / 7739
11
 (OMIM) Normal cognition 7 / 7739
12
 (HPO:0003593) Infantile onset 249 / 7739
13
 (OMIM) Mild proximal muscle weakness (<10% of patients) 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as ...
Clinical Description OMIM Godfrey et al. (2007) reported a patient with POMT2-related limb-girdle muscular dystrophy. The patient was reported to have onset at 18 months, achieved walking, had increased serum creatine kinase, muscle hypertrophy, low IQ, and right bundle branch block ...
Molecular genetics OMIM In a patient with limb-girdle muscular dystrophy, Godfrey et al. (2007) identified compound heterozygosity for 2 mutations in the POMT2 gene (T184M, 607439.0010; W748S, 607439.0011).