Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
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Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacher Str. 62
79106 Freiburg
- Duchenne muscular dystrophy
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Motor neuron disease
- Autosomal dominant slowed nerve conduction velocity
- Distal hereditary motor neuropathy type 1
- Bulbospinal muscular atrophy
- Amyotrophic lateral sclerosis
- Proximal spinal muscular atrophy
- Emery-Dreifuss muscular dystrophy
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Muscular dystrophy
- Limb-girdle muscular dystrophy
- Spinocerebellar ataxia with axonal neuropathy type 1
- Becker muscular dystrophy
- Distal myopathy