Università
degli Studi
di Milano
Centro Dino Ferrari
Ospedale
Maggiore
di Milano
Dipartimento di Scienze Neurologiche, Università degli Studi di Milano - IRCCS Opsedale Maggiore Policlinico di Milano
 
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Services and laboratories » Unità Operativa Semplice – (U.O.S.) Diagnostica delle Malattie Neuromuscolari » Tissue Bank

Sincert - BVQI

Bank of Dna cell line and nerve-muscle-cardiac tissues

Curator: Prof. M. Moggio
Co-responsible: Dr M. Sciacco

The Bank has been partially funded by Telethon foundation since 1999 (present project GTF 02008, 3 year duration).Since January 2002 the Bank has become one of the partners of the Eurobiobank Network, sponsored by the European Community, under the Coordination of Eurordis (European Organization for Rare Disorders).The Bank is held in collaboration with Prof. N. Bresolin and Dr. G.P. Comi of the Laboratory of Biochemistry and Molecular Genetics of Dipartimento di Scienze Neurologiche, University of Milan, Ospedale Maggiore di Milano. (Director Prof. N.Bresolin).

Tel.: 0039-02-55033966
Fax: 0039-02-55033827
E-mail: maurizio.moggio@unimi.it

The Bank is updated December 2009
The existence of selected banks for neuromuscular samples allows the collection of a consistent number of specimens per single disease and therefore examination of the same by experienced people for both research and diagnostic purposes. The Bank presently stocks slides of histology, histochemestry and immunohistochemistry from 9102 bioptic specimens, 5218 skeletal muscle samples, 15 cardiac muscles, over 2620 embedded samples for ultrastructural studies, 461 peripheral nerve specimens for morphological studies. Besides, 4322 muscle specimens for biochemical studies, 3304 DNA samples and 1139 muscle cell cultures are also available (see below). All specimens were obtained after informed consent from patients affected with different neuromuscular disorders.-The existence of selected banks for neuromuscular samples allows the collection of a consistent number of specimens per single disease and therefore examination of the same by experienced people for both research and diagnostic purposes.-The Bank routinely accepts biological material from other hospitals or laboratories for genetic, morphological and biochemical analyses.
» For information see "in samples”.

The described procedures are expensive and time-consuming and the amount of sample available is limited. For this reason, the curator of the Bank needs an appropriate documentation about both diagnostic and research projects for any sample requested. Also, once the research work is completed and published, each investigator is requested to quote the Bank as the source of the samples studied.
» For information see "out samples”.

Biological Samples

Biological samples are presently classified as follows:

TISSUE SAMPLES, DNA AND CELLS STORED

Muscle = 5218 ; Nerve= 461 DNA= 3304 ; fibrogenic cell line =605 ;
muscle cell line=646; Muscle for biochemical studies=4322

Until 31st December 2009

DISEASE

N. samples
Muscle tissues

N. samples DNA

N
Muscle cell lines

N.
Fibro. cell lines

OMIM #

Molecular diagnosis

Biochem. diagnosis

Clinical / pathol. diagnosis

Duchenne dystrophy, DMD

168

209

65

38

310200

X

 

X

Becker dystrophy, BMD

75

223

42

48

300376

X

X

 

DMD/BMD carrier

26

26

15

18

310200

 

 

X

Relatives of distrophinopathic pts

 

381

 

 

 

 

 

X

LGMD2A, calpainopathy

 

 

2

2

253600

7/X

X

 

LGMD2B, dysferlinopathy

14

46

2

2

253601

X

X

 

LGMD2C, gamma-sarcoglycanopathy

14

69

2

2

253700

X

 

 

LGMD2D, alpha-sarcoglycanopathy

4

4

1

1

600899

X

 

 

LGMD2E, beta-sarcoglycanopathy

6

12

3

3

604286

X

 

 

LGMD2F, delta-sarcoglycanopathy

6

9

2

2

601287

X

 

 

LGMD2I, FKRP

1

 

1

1

607155

X

 

 

LGMD1B, LMNA

4

8

2

2

159001

X

 

 

LGMD1C, caveolinopathy

33

60

1

1

607801

X

 

 

Other LGMD

58

54

1

1

 

 

 

X

Facio-scapulo-humeral, FSHD1

54

2

7

5

158900

X

 

 

Merosinopathy, LAMA2

2

 

 

 

607855

 

X

 

Congenital dystrophies

18

14

6

6

 

X

 

X

Myotonic dystrophy, Steinert, DM1

52

70

5

4

160900

X

 

 

Thomsen/Becker disease CLCN1 channel

2

2

 

 

160800/ 255700        X

 

 

Selenoproteine (SEPN1)

 

3

 

 

         X

 

 

Hypokaliemic periodic paralysis

6

 

 

 

170400

 

 

X

Oculo-pharyngeal

8

3

4

3

164300

X

 

 

Nemaline myopathy

2

 

1

1

256030

 

 

X

Centralcore myopathy

5

 

2

2

117000

 

 

X

Minicore myopathy

1

 

1

1

 

 

 

X

Centronuclear myopathy

 

 

 

 

602378

 

 

X

Myotubular myopathy, MTMX

5

 

1

1

310400

X

 

 

Fiber type disproportion

1

 

2

3

 

 

 

X

Myophibrillar myopathies

9

1

3

4

 

 

 

X

Tubular aggregates

11

 

 

 

 

 

 

X

Morbo di Basedow

2

 

 

 

 

 

 

 

Glycogenosis type II, Pompe

101

6

13

23

232300

23X

33X

 

Glycogenosis type V, Mc Ardle

18

 

11

11

232600

5X

14X

 

Glycogenosis type III

9

45

20

20

232400

X

X

2X

Glycogenosis type VII

1

 

5

5

232800

 

X

 

Glycogenosis type X

1

3

 

 

232500

X

X

 

Glycogenosis type XIII

1

 

 

 

 

 

X

 

G6PD deficiency

11

 

 

 

305900

4X

11X

 

MAD deficiency

34

6

1

1

 

 

X

 

MELAS/MERRF

24

38

5/5

5/5

540000/
545000

X

 

 

PEO 3243

8

8

 

 

 

X

 

 

Leber

4

37

 

 

53500

X

 

 

NARP

2

3

 

 

551500

X

 

 

mt-DNA Macrodeletions

88

59

25

24

 

X

 

 

Mt-DNA multiple deletions

82

130

40

30

 

X

 

 

Mt-DNA depletion

9

15

 

 

 

X

 

 

Other mt-DNA point mutations

14

42

1

1

 

X

 

 

Other mitochondrial disorders

251

219

25

25

 

 

X

 

Lipid storage myopathy

45

25

1

1

 

 

X

X

L-CAD deficiency

6

 

 

 

 

 

X

 

M-CAD deficiency

1

 

 

 

 

 

x

 

CPT deficiency

13

36

1

1

255110

X

X

 

Inflammatory myopathies

617

11

75

48

 

 

 

X

IBM

43

10

8

7

 

 

 

X

Critical illness myopathy

12

 

 

 

 

 

 

X

Myasthenia gravis

13

 

1

 

 

 

 

X

Malignant hyperthermia

12

192

 

 

 

x

 

 

Essential hyperCkemia

136

60

37

30

 

 

 

X

Spinal muscular atrophy,
SMA-1,2,3

52

52

2

12

253550

X

 

 

Spinal bulbar muscular atrophy, Kennedy

1

8

 

 

313200

X

 

 

ALS/ Motor neuron disease

170

86

8

15

 

 

 

X

Mild non specific myopathic signs

948

794

44

44

 

 

 

X

Mild non specific neurogenic  signs

750

7

15

15

 

 

 

X

Normal muscle biopsies

1145

21

141

119

 

 

 

X

                 

DISEASE

N. samples
heart tissues

N. samples DNA

N
Muscle cell lines

N.
Fibro cell lines

OMIM #

Molecular diagnosis

Biochem. diagnosis

Clinical / pathol. diagnosis

Dilatative idiopathic
cardiomyopathy

5

 

 

 

 

 

 

X

Secondary dilatative cardiomyopathy

3

 

 

 

 

 

 

X

Myocarditis

3

 

 

 

 

 

 

X

Ischemic cardiopathy

4

 

 

 

 

 

 

X

                 

DISEASE

N. samples nerve tissues

N. samples DNA

N
Muscle cell line

N.
Fibro. cell line

OMIM #

Molecular diagnosis

Biochem. diagnosis

Clinical / pathol. diagnosis

Degenerative neuropathy (hereditary and acquired)

389

 

 

 

 

 

 

X

Inflammatory neuropathy

45

 

 

 

 

 

 

X

Normal nerve biopsy

25

 

 

 

 

 

 

X

Spastic paraparesis
(Paraplegin def)

1

8

1

1

602783

X

 

 

S di Down

1

186

 

26

 

X

 

X

Highlights
Muscle mitochondrial dysfunction plays a role in the pathogenesis of Amyotrophic Lateral Sclerosis
 
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