Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. [electronic resource]
Producer: 20080206Description: 205-8 p. digitalISSN:- 1468-330X
- Adipose Tissue -- pathology
- Adult
- Aged
- Amino Acid Substitution -- genetics
- Atrophy
- Biopsy
- Chromosome Aberrations
- Codon -- genetics
- Connectin
- Creatine Kinase -- blood
- Cytoskeletal Proteins -- genetics
- DNA Mutational Analysis
- Electromyography
- Exons -- genetics
- Female
- Genes, Dominant -- genetics
- Genetic Carrier Screening
- Humans
- Leg
- Magnetic Resonance Imaging
- Male
- Microfilament Proteins
- Middle Aged
- Muscle Proteins -- genetics
- Muscle Weakness -- diagnosis
- Muscle, Skeletal -- pathology
- Muscular Atrophy -- diagnosis
- Muscular Diseases -- diagnosis
- Muscular Dystrophies, Limb-Girdle -- diagnosis
- Mutation, Missense
- Neurologic Examination
- Pedigree
- Phenotype
- Phenylalanine -- genetics
- Serine -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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