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