He has a rare neurological disorder called HNPP ( Hereditary Neuropathy with Pressure Palsies ).
2.
If, instead, the chromosome with the deletion were passed on to the next generation, the result would be another nerve disorder, a milder one called HNPP, which stands for hereditary neuropathy with liability to pressure palsies.
3.
NAHR and non-homologous end joining ( NHEJ ) within this region are responsible for a wide range of disorders, including Charcot Marie Tooth syndrome type 1A, hereditary neuropathy with liability to pressure palsies, and Potocki Lupski syndrome.
4.
Overlap with Charcot-Marie-Tooth disease type 1A has been found in " Gly94fsX222 ( c . 281 _ 282insG ) ", due to point mutations of PMP 22 that occur in a minority of cases of hereditary neuropathy with liability to pressure palsy.
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