Autosomal recessive limb-girdle muscular dystrophy type 2L

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2L
Number of Symptoms 23
OrphanetNr: 206549
OMIM Id: 611307
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of fukutin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
3
 (HPO:0008981) Calf muscle hypertrophy 28 / 7739
4
 (HPO:0003236) Elevated serum creatine phosphokinase Frequent [HPO:skoehler] 214 / 7739
5
 (HPO:0003560) Muscular dystrophy 88 / 7739
6
 (HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
7
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
8
 (HPO:0003701) Proximal muscle weakness 105 / 7739
9
 (HPO:0003326) Myalgia 143 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
12
 (OMIM) Biceps brachii atrophy 1 / 7739
13
 (OMIM) Quadriceps atrophy 2 / 7739
14
 (OMIM) Facial weakness, mild 6 / 7739
15
 (OMIM) Prominent involvement of the quadriceps femoris muscles 1 / 7739
16
 (OMIM) Asymmetric muscle involvement 2 / 7739
17
 (OMIM) Skeletal muscle biopsy shows dystrophic changes 3 / 7739
18
 (OMIM) Normal or increased serum creatine kinase 3 / 7739
19
 (HPO:0003828) Variable expressivity 130 / 7739
20
 (OMIM) Prominent involvement of the biceps brachii muscles 1 / 7739
21
 (HPO:0003676) Progressive disorder 148 / 7739
22
 (OMIM) Muscle biopsy shows disruption of the sarcolemmal membrane 1 / 7739
23
 (OMIM) MRI shows increased connective tissue and fat 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jarry et al. (2007) reported 14 French Canadian patients from 8 different families with limb-girdle muscular dystrophy with quadriceps atrophy. Age at onset ranged from 11 to 50 years. The majority of patients reported muscle pain. Although the ...
Molecular genetics OMIM In affected members of 2 unrelated French-Canadian families with LGMD2L, Bolduc et al. (2010) identified a homozygous mutation in the ANO5 (608662.0003), resulting in a frameshift and premature termination. Haplotype analysis suggested a founder effect. One of the ...