UNASSIGNED: Two Croatian siblings with atypical clinical findings in the presence of @entity11280 gene mutations are reported. The @entity1 presented with delayed motor development and @entity425 in hands and feet in her first year of life. She never stood or walked and developed @entity1635 and @entity1159 during childhood. Her hands and feet were non-functional when last seen at age 14 years. Her 4-year-old brother was more severely affected and had a clinical picture resembling @entity4574 ( @entity2057 ) type 1. He also showed unusual distally pronounced @entity425 and @entity425 . Both @entity1 had no sensory deficits but gave evidence of a mixed @entity17 with pronounced slowing in the distal nerve segments. Unexpectedly, both siblings showed a compound heterozygous @entity11280 mutation (heterozygous deletion and missense mutation @entity70120 ; @entity70121 ), thus confirming @entity4574 . In addition, next generation sequencing of 52 genes for @entity16 revealed a heterozygous missense mutation @entity70122 ; @entity70123 in the @entity52388 gene that was transmitted by the healthy father. Our observations widen the phenotypic consequences of @entity11280 gene mutations and support the notion to look for additional genetic factors which may modify the clinical picture in atypical cases.

Distally pronounced @entity4574 with severe @entity17 associated with the @entity70121 mutation of XXXX .

@entity1 :: ('9606', 'Species') :: ['girl', 'patients'] @entity17 :: ('MESH:D003711', 'Disease') :: ['axonal and demyelinating neuropathy'] @entity4574 :: ('MESH:D014897', 'Disease') :: ['infantile spinal muscular atrophy', 'infantile SMA'] @entity70120 :: ('c|SUB|C|689|T', 'DNAMutation') :: ['c.689C   >   T'] @entity70122 :: ('c|SUB|T|505|C', 'DNAMutation') :: ['c.505T   >   C'] @entity52388 :: ('79628', 'Gene') :: ['SH3TC2'] @entity16 :: ('MESH:D009422', 'Disease') :: ['hereditary neuropathies'] @entity1635 :: ('MESH:D012600', 'Disease') :: ['scoliosis'] @entity425 :: ('MESH:D018908', 'Disease') :: ['weakness', 'facial weakness'] @entity70121 :: ('p|SUB|S|230|L', 'ProteinMutation') :: ['p.S230L'] @entity70123 :: ('p|SUB|Y|169|H', 'ProteinMutation') :: ['p.Y169H'] @entity1159 :: ('MESH:D003286', 'Disease') :: ['joint contractures'] @entity11280 :: ('6606', 'Gene') :: ['SMN1'] @entity2057 :: ('MESH:D009133', 'Disease') :: ['SMA']
@entity11280 :: (6606,Gene) :: ['SMN1']
