| Symbol
| LGMD1B
|
| Location
| 1q22
|
| HGNC id
| 6575
|
| Name
|
limb girdle muscular dystrophy 1B |
| Corresponding gene
|
LMNA
|
| Main clinical features
|
Dutch family, slowly progressive, proximal arm weakness, absent ankle deep-tendon reflexes and elevated creatine-kinase values, without early contractures, with early onset cardiac conduction defect |
| Genetic determination
| autosomal dominant |
| Related entries
| . also including congenital muscular dystrophies (OMIM 613205), a severe early-onset disease, without motor development, and tdevelopment of a "dropped head" syndrome phenotype (PMID: 18551513)
|
| Function/system disorder
| neuromuscular |
| Type
| disease
|