A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33

Clinical Genetics

Volumn 79, Issue 2, 2011, Pages 193-195

  Bohlega, S ^a   Alazami, A M ^a   Cupler, E ^a   Al Hindi, H ^b   Ibrahim, E ^a   Alkuraya, F S ^a,c,d  

^a Department of Neurosciences ^*  (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME 22Q; COGNITIVE DEFECT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTELLIGENCE QUOTIENT; LETTER; MALE; MENTAL DEFICIENCY; MICROCEPHALY; OPHTHALMOPLEGIA; POLYNEUROPATHY; PRIORITY JOURNAL; STRABISMUS; SYNDACTYLY;

ADULT; CHROMOSOMES, HUMAN, PAIR 22; GENETIC LINKAGE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MIDDLE AGED; SAUDI ARABIA; SYNDROME;

EID: 78650889402     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01524.x     Document Type: Letter

References (7)

1. Parman Y. Hereditary neuropathies. Curr Opin Neurol 2007: 20: 542-547.
2. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974: 6: 98-118.
3. Barisic N, Claeys KG, Sirotkovic-Skerlev M, Lofgren A, Nelis E, De Jonghe P, Timmerman V. Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Ann Hum Genet 2008: 72: 416-441.
4. Alkuraya FS. Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med 2010: 12: 236-239.
5. Liu A, Wang B, Niswander LA. Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development 2005: 132: 3103-3111.
6. van Dijk J, Rogowski K, Miro J, Lacroix B, Edde B, Janke C. A targeted multienzyme mechanism for selective microtubule polyglutamylation. Mol Cell 2007: 26: 437-448.
7. Toriello HV, Higgins JV. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. Am J Med Genet 1995: 55: 200-204.