+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Discordant repeat size and phenotype in Kennedy syndrome

, : Discordant repeat size and phenotype in Kennedy syndrome. Clinical Genetics. 53(4): 276-277, Il

Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease.


PMID: 9650764

DOI: 10.1111/j.1399-0004.1998.tb02695.x

Other references

Barber, H.P., 1968: Coherence length extension of he-ne lasers. Applied Optics 7(3): 559-561

Stashak, T.S., 1979: Clinical evaluation of the equine colic patient. Veterinary Clinics of North America. Large Animal Practice 1(2): 275-287

Khamiev, SKh., 1979: Blood indices during su-auru infection of camels. Vestnik Sel'skokhozyaistvennoi Nauki Kazakhstana, 8: 73-75

White, D.E., 2012: Healthcare standards compliance--a timely primer. This article attempts to provide a better understanding of the plethora of programs, policies, and procedures employed by governmental and other agencies which regulate healthcare facilities and impact on security and safety.

Shigematsu, N.; Hayashi, K.; Kayakiri, N.; Takase, S.; Hashimoto, M.; Tanaka, H., 1993: Structure of WS9326A, a novel tachykinin antagonist from a Streptomyces. A novel tachykinin antagonist WS9326A was isolated from Streptomyces violaceoniger no. 9326. It is an acylated macrocyclic heptapeptide lactone consisting of L-Thr, (E)-dehydro-N-methyltyrosine ((E)-DELTA-MeTyr),L-Leu,D-Phe,L-alloThr,L-Asn,L-Ser,...

Riezebos, R.K.; Verheugt, F.W.A., 2014: Timing of angiography in non-ST elevation myocardial infarction. Acute coronary syndromesAcute chest pain remains one of the most difficult challenges for the clinician. Nowadays, chest pain and its related complaints account for up to 10% of the adult emergency admissions and around 25% of all hospital admissi...

Schardong, J.; Dipp, T.; Bozzeto, C.Bassani.; da Silva, Mília.Godoy.; Baldissera, G.Leivas.; Ribeiro, Rí; Valdemarca, B.Pan.; do Pinho, A.Severo.; Sbruzzi, G.; Plentz, R.Della.Méa., 2017: Effects of Intradialytic Neuromuscular Electrical Stimulation on Strength and Muscle Architecture in Patients With Chronic Kidney Failure: Randomized Clinical Trial. This study aimed to evaluate the effects of neuromuscular electrical stimulation (NMES) on muscle strength and architecture, functional capacity, and endothelial function in patients with chronic kidney failure (CKF) on hemodialysis (HD). Twenty-o...

Rocha, J.; Alberich, R., 2011: The significance of the ProtDeform score for structure prediction and alignment. When a researcher uses a program to align two proteins and gets a score, one of her main concerns is how often the program gives a similar score to pairs that are or are not in the same fold. This issue was analysed in detail recently for the prog...

Engelmann, A., 1956: Drying problems in the manufacture of parquet flooring.. Reports on experiments into the degree of uniformity of moisture content obtainable, showing that air-stream velocity and total drying time have hardly any, and drying temperatures little, influence on the result, which is chiefly influenced by th...

Gupta, VJ.; Janvier, P., 1979: A review of the Devonian vertebrate localities of the Indian Himalayas Kashmir, Ladakh and Kumaun with remarks on their stratigraphical and palaeobiogeographical significance. Contributions to Himalayan Geology, 1: 78-83