Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion

2005 ◽  
Vol 32 (5) ◽  
pp. 668-671 ◽  
Author(s):  
Ashok Verma
Keyword(s):  
Scapuloperoneal Syndrome ◽  
17P11.2 Deletion

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome)

2010 ◽  
Vol 152A (3) ◽  
pp. 708-712 ◽  
Author(s):  
Chiara Leoni ◽  
Laura Cesarini ◽  
Serena Dittoni ◽  
Domenica Battaglia ◽  
Antonio Novelli ◽  
...  
Keyword(s):  
Rem Sleep ◽  
17P11.2 Deletion

Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: A reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients

1996 ◽  
Vol 213 (1) ◽  
pp. 71-73
Author(s):  
Emilia Bellone ◽  
Angelo Schenone ◽  
Gianluigi Mancardi ◽  
Garth A Nicholson ◽  
Michele Abbruzzese ◽  
...  
Keyword(s):  
Genetic Test ◽  
Hereditary Neuropathy ◽  
Pressure Palsies ◽  
17P11.2 Deletion

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith–Magenis syndrome minimum deletion to ~650 kb

2005 ◽  
Vol 48 (3) ◽  
pp. 290-300 ◽  
Author(s):  
Jacqueline Schoumans ◽  
Johan Staaf ◽  
Göran Jönsson ◽  
Johanna Rantala ◽  
Kerstin Sars Zimmer ◽  
...  
Keyword(s):  
Array Cgh ◽  
17P11.2 Deletion

scholarly journals Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

Brain ◽  
2007 ◽  
Vol 130 (6) ◽  
pp. 1485-1496 ◽  
Author(s):  
M. C. Walter ◽  
P. Reilich ◽  
A. Huebner ◽  
D. Fischer ◽  
R. Schroder ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Adult Onset ◽  
Phenotypic Spectrum ◽  
Scapuloperoneal Syndrome

Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion

1995 ◽  
Vol 131 (1) ◽  
pp. 30-34 ◽  
Author(s):  
G.L. Mancardi ◽  
P. Mandich ◽  
S. Nassani ◽  
A. Schenone ◽  
R. James ◽  
...  
Keyword(s):  
Sensory Motor ◽  
Tomaculous Changes ◽  
17P11.2 Deletion

Clinical and electrophysiologic features of HNPP patients with 17p11.2 deletion

2003 ◽  
Vol 108 (5) ◽  
pp. 352-358 ◽  
Author(s):  
Y.-H. Hong ◽  
M. Kim ◽  
H.-J. Kim ◽  
J.-J. Sung ◽  
S. H. Kim ◽  
...  
Keyword(s):  
17P11.2 Deletion

scholarly journals Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

2009 ◽  
Vol 149A (7) ◽  
pp. 1382-1391 ◽  
Author(s):  
Eilis A. Boudreau ◽  
Kyle P. Johnson ◽  
Angela R. Jackman ◽  
Jan Blancato ◽  
Marjan Huizing ◽  
...  
Keyword(s):  
Melatonin Secretion ◽  
Sleep Patterns ◽  
17P11.2 Deletion

scholarly journals Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Nivedita U. Jerath
Keyword(s):  
Genetic Testing ◽  
Clinical Laboratory ◽  
Chronic Neck Pain ◽  
Pain Medication ◽  
Clinical Heterogeneity ◽  
Her Family ◽  
Scapuloperoneal Syndrome ◽  
High Degree ◽  
Work Up ◽  
Normal Work

Valosin containing protein (VCP) mutations have been reported to present with a high degree of variability and can be present in patients even if they may have an initial normal work up. A 55-year-old woman was labeled as “normal” and “pain medication seeking” after an unrevealing work up of clinical, laboratory, electrodiagnostic, radiographic, pathologic, and genetic testing. She continued to present with chronic neck pain, and had variable features of scapuloperoneal atrophy, which was also seen in her family. The patient and her family were found to have a known pathogenic c.464G>A, p.Arg155His (R155H) mutation in the VCP gene. Despite traditional thinking of attempting to localize neurological syndromes, VCP mutations are difficult to localize as they can present with significant clinical heterogeneity including a scapuloperoneal syndrome with variable neuropathic and myopathic features.

Scapuloperoneal Syndrome, X-linked

2009 ◽  
pp. 1891-1891
Author(s):  
Alexander K. C. Leung ◽  
Cham Pion Kao ◽  
Andrew L. Wong ◽  
Alexander K. C. Leung ◽  
Thomas Kolter ◽  
...  
Keyword(s):  
Syndrome X ◽  
Scapuloperoneal Syndrome

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype

2000 ◽  
Vol 95 (5) ◽  
pp. 467-472 ◽  
Author(s):  
F. Natacci ◽  
L. Corrado ◽  
M. Pierri ◽  
M. Rossetti ◽  
C. Zuccarini ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
17P11.2 Deletion
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