Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. [electronic resource]
Producer: 20110913Description: 647-54 p. digitalISSN:- 1476-5438
- Abnormalities, Multiple -- genetics
- Acro-Osteolysis -- complications
- Adult
- Amino Acid Sequence
- Cell Culture Techniques
- Female
- Fibroblasts
- Heterozygote
- Homozygote
- Humans
- Lamin Type A -- genetics
- Lipodystrophy -- complications
- Mandible -- abnormalities
- Membrane Proteins -- genetics
- Metalloendopeptidases -- genetics
- Molecular Sequence Data
- Muscular Dystrophies -- complications
- Mutation
- Mutation, Missense
- Myopathies, Structural, Congenital -- complications
- Nuclear Proteins -- genetics
- Phenotype
- Progeria -- complications
- Protein Precursors -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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